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Protein Coding Gene : Vangl2 VANGL planar cell polarity 2

Primary Identifier  MGI:2135272 Organism  mouse, laboratory
Chromosome  1 NCBI Gene Number  93840
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0)

Involved in several processes, including axon guidance; morphogenesis of an epithelium; and regulation of synapse pruning. Acts upstream of or within several processes, including heart morphogenesis; inner ear development; and morphogenesis of an epithelium. Located in several cellular components, including basolateral plasma membrane; lateral plasma membrane; and stress fiber. Is active in glutamatergic synapse and postsynaptic density membrane. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; respiratory system epithelium; and sensory organ. Used to study neural tube defect. Human ortholog(s) of this gene implicated in neural tube defect. Orthologous to human VANGL2 (VANGL planar cell polarity protein 2).
PHENOTYPE: Homozygous animals do not survive past birth. Developmental defects are seen in the nervous, cardiovascular, skeletal, vestibular, and respiratory systems. Kinked or looped tails are noted in heterozygotes with partial penetrance, along with a head wobble and some nervous system deficits. [provided by MGI curators]
  • synonyms:
  • skeletal/axial 17,
  • MGI:3038451,
  • MGI:96818,
  • RIKEN cDNA C530001F03 gene,
  • VANGL planar cell polarity 2,
  • ska<m17Jus>,
  • MGD-MRK-11867,
  • loop-tail,
  • MGI:4460159,
  • loop tail-like,
  • C530001F03Rik,
  • MGI:1924856,
  • Vangl2,
  • Lp,
  • Lootl,
  • loop tail,
  • ska17,
  • Lpp1,
  • mKIAA1215,
  • loop tail associated protein,
  • strabismus,
  • Ltap

Features --> Cross References

Genome

Sequence Feature Displayer

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0 Canonical

0 CDSs

0 Exons

0 Genomic Clusters

2 Involved In Mutations

0 Strain

0 Transcripts

3 Transgenic Expressors

0 UTRs

Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

Canonical gene --> Strain-specific IDs, biotypes, and locations

Canonical gene --> Transcripts in specific strains.

Features --> Overlapping features

Proteins

Gene --> Proteins

Function

Mouse features --> Functions (GO terms)

Homology

Genes --> Homologs

Interactions

7 Pathways

0 Targeted By

Gene --> Protein-Protein Interactions

Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Disease

Mouse features --> Human diseases

Literature

Mouse features --> Publications

 

Other

0 Driver For